rs144538541

This variant is located in the CLIC5 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

ectonucleotide pyrophosphatase/phosphodiesterase family member 5 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele C
OR —
β 1.700
p 8.0e-278
N 3,301
Large GWAS
European

level of TGF-beta receptor type-1 in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 1.76
p 1.0e-24
N 198
Small GWAS
European

About CLIC5

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all CLIC5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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